gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39447019 (AFR)
Genomes Max Group AF
0.39447019 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.34657448G>T , CM000669.2:g.34657448G>T | GRCh38 |
| NC_000007.13:g.34697060G>T , CM000669.1:g.34697060G>T | GRCh37 |
| NC_000007.12:g.34663585G>T | NCBI36 |
| NG_012185.1:g.4164G>T | |
| NG_021366.1:g.181884C>A | |
| NG_012185.2:g.4164G>T | |
| NG_021366.2:g.181884C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033664.1:n.279+71289C>A | ||
| NR_033665.1:n.279+71289C>A |